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FLASH GENE

Symbol

C3

contributors: mct - updated : 12-10-2021

HGNC name	complement component 3
HGNC id	1318

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	like-sequence
STRUCTURE	42.95 kb     41 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   transcription factor
text structure	several putative binding sites for transcription factors were found in the 5' flanking region, suggesting possible pathways for the regulation of the C3 gene

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed C3a 26 - - - - - 2004 15550543 28 kb and contains 26 exons, including exon 16 to 41, anaphylatoxin NM_000064 41 - 5231 NP_000055 - 1663 - 2004 15550543 C3b C3 beta chain spans 13 kb from exon 1 to exon 16, opsonin

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Homo sapiens Endocrine pancreas         Homo sapiens Reproductive female system ovary     highly   female system breast mammary gland   highly Visual eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective adipose     highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte Endocrine islet cell (alpha,beta...) Homo sapiens Lymphoid/Immune macrophage Homo sapiens not specific adipocyte Homo sapiens

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two short consensus repeats, sushi structure (see F13B, SRCP1)
	an anaphylatoxin-like domain
	a NTR domain

conjugated

GlycoP

isoforms

Precursor

HOMOLOGY

interspecies

homolog to murine C3

Homologene

FAMILY

CATEGORY

enzyme , immunity/defense

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	playing a central role in the activation of the complement system
	activation is required for both classical and alternative complement activation pathways
	may play a role in the macrovascular, as well as microvascular, complications of diabetes
	role of complement C3 in metabolic, atherosclerotic/atherothrombotic and microangiopathic processes
	C3 impacts likely the activity of small GTPases resulting in cell cycle defects and premature neuronal differentiation
	intracellular function for C3, connecting the complement system directly to autophagy, with a broad potential importance in other diseases and cell types
	age-related changes in renal structure occur earlier than functional changes and that complement C3 is involved in aging-related kidney disorder

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense , inflammation

PATHWAY

metabolism

signaling

signal transduction

a component	C3a, anaphylatoxin, mediator of local inflammation process
	two chains, beta and alpha, linked by a disulfide bond

INTERACTION

DNA

RNA

small molecule

protein	binding factor B
	C3 exerts neuroprotective effects against excitotoxic damage induced by NMDA
	CFHR1 competes with complement factor H-like protein 1 (CFH) for binding to C3b
	C3 interacts with ATG16L1, which is essential for autophagy
	C3 binds fibrinogen and compromises fibrin clot lysis thereby enhancing thrombosis risk

cell & other

C3b cell surface dependent amplification of C3 cleavage

REGULATION

activated by

classical or alternative pathway

inhibited by

or inactivated by factor H or factor I

Other

active C3b,Bb stabilized by properdin

ASSOCIATED DISORDERS

corresponding disease(s)

C3D

related resource

C3base - Mutation registry for C3 deficiency

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in C3 glomerulopathy constitutional         mitigates the phagocytosis of photoreceptors by macrophages in the outer retina

Susceptibility

to age-related macular degeneration (ARMD9) to cardiometabolic diseases

Variant & Polymorphism other	R102G polymorphism increases risk of age-related macular degeneration
	specific C3 polymorphisms have been shown to predict future cardiovascular events

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed blood coagulation   C3 binds fibrinogen beta-chain and disruption of fibrinogen-C3 interactionenhances fibrinolysis, which represents a potential novel target tool to reduce thrombosis in high risk individuals

ANIMAL & CELL MODELS